329 results on '"Froyen, Guy"'
Search Results
2. HLA-I diversity and tumor mutational burden by comprehensive next-generation sequencing as predictive biomarkers for the treatment of non-small cell lung cancer with PD-(L)1 inhibitors
3. Expanding the phenotypic spectrum of PORCN variants in two males with syndromic microphthalmia.
4. Whole-genome sequencing reveals progressive versus stable myeloma precursor conditions as two distinct entities
5. Prognostic Biomarkers in the Progression From MGUS to Multiple Myeloma: A Systematic Review
6. Novel gene fusion discovery in Spitz tumours and its relevance in diagnostics
7. Lung proliferation is dependent on the duration not the timepoint of tracheal occlusion in nitrofen rats with diaphragmatic hernia
8. Clinical Validation of Targeted Solid Tumor Profiling
9. Liquid Biopsy in Early-Stage Lung Cancer: Current and Future Clinical Applications
10. Liquid Biopsy in Early-Stage Lung Cancer: Current and Future Clinical Applications
11. Reliability of panel-based mutational signatures for immune-checkpoint-inhibition efficacy prediction in non-small cell lung cancer
12. Microdeletion of the escape genes KDM5C and IQSEC2 in a girl with severe intellectual disability and autistic features
13. Mapping the landscape of tandem repeat variability by targeted long read single molecule sequencing in familial X-linked intellectual disability
14. A novel fragile X syndrome mutation reveals a conserved role for the carboxy‐terminus in FMRP localization and function
15. Novel microduplications at Xp11.22 including HUWE1: clinical and molecular insights into these genomic rearrangements associated with intellectual disability
16. Diagnostic Validation of a Comprehensive Targeted Panel for Broad Mutational and Biomarker Analysis in Solid Tumors
17. Potential therapeutic use of antibodies directed towards HuIFN-γ
18. Mutations in Ionotropic AMPA Receptor 3 Alter Channel Properties and Are Associated with Moderate Cognitive Impairment in Humans
19. The Dynamics of Nucleotide Variants in the Progression from Low–Intermediate Myeloma Precursor Conditions to Multiple Myeloma: Studying Serial Samples with a Targeted Sequencing Approach
20. De novo MECP2 duplications in two females with intellectual disability and unfavorable complete skewed X-inactivation
21. P-058: The dynamics of nucleotide variants in the progression from myeloma precursor conditions to multiple myeloma using targeted sequencing of serial bone marrow samples
22. Increased STAG2 dosage defines a novel cohesinopathy with intellectual disability and behavioral problems
23. A New Chromosome X Exon-Specific Microarray Platform for Screening of Patients with X-Linked Disorders
24. The mitochondrial solute carrier SLC25A5 at Xq24 is a novel candidate gene for non-syndromic intellectual disability
25. Evidence for increased SOX3 dosage as a risk factor for X-linked hypopituitarism and neural tube defects
26. Mutation screening in 86 known X-linked mental retardation genes by droplet-based multiplex PCR and massive parallel sequencing
27. Large-scale analysis of tandem repeat variability in the human genome
28. Increased Dosage of RAB39B Affects Neuronal Development and Could Explain the Cognitive Impairment in Male Patients with Distal Xq28 Copy Number Gains
29. Early Frameshift Mutation in PIGA Identified in a Large XLID Family Without Neonatal Lethality
30. Dosage-dependent severity of the phenotype in patients with mental retardation due to a recurrent copy-number gain at Xq28 mediated by an unusual recombination
31. Submicroscopic duplications of the hydroxysteroid dehydrogenase HSD17B10 and the E3 ubiquitin ligase HUWE1 are associated with mental retardation
32. Loss of SLC38A5 and FTSJ1 at Xp11.23 in three brothers with non-syndromic mental retardation due to a microdeletion in an unstable genomic region
33. Screening of 20 patients with X-linked mental retardation using chromosome X-specific array-MAPH
34. Duplication of the MECP2 region is a frequent cause of severe mental retardation and progressive neurological symptoms in males
35. Deletion of the 5′exons of COL4A6 is not needed for the development of diffuse leiomyomatosis in patients with Alport syndrome
36. Telomere length homeostasis and telomere position effect on a linear human artificial chromosome are dictated by the genetic background
37. A longer tracheal occlusion period results in increased lung growth in the nitrofen rat model
38. Whole genome sequencing provides evidence of two biologically and clinically distinct entities of asymptomatic monoclonal gammopathies: progressive versus stable myeloma precursor condition
39. Whole-Genome Sequencing Reveals Evidence of Two Biologically and Clinically Distinct Entities: Progressive Versus Stable Myeloma Precursor Disease
40. Single allele knock-out of Candida albicans CGT1 leads to unexpected resistance to hygromycin B and elevated temperature
41. Four unrelated patients with lubs X-linked mental retardation syndrome and different Xq28 duplications
42. X-linked congenital ataxia: A new locus maps to Xq25-q27.1
43. PAK3 related mental disability: Further characterization of the phenotype
44. Detection of Genomic Copy Number Changes in Patients With Idiopathic Mental Retardation by High-Resolution X-Array-CGH: Important Role for Increased Gene Dosage of XLMR Genes†
45. Encephalopathy and bilateral cataract in a boy with an interstitial deletion of Xp22 comprising the CDKL5 and NHS genes
46. Mutation Frequencies of X-linked Mental Retardation Genes in Families from the EuroMRX Consortium
47. An Xq22.3 Duplication Detected by Comparative Genomic Hybridization Microarray (Array-CGH) Defines a New Locus (FGS5) for FG Syndrome
48. Deletion of VCX-A due to NAHR plays a major role in the occurrence of mental retardation in patients with X-linked ichthyosis
49. Molecular test algorithms for digestive tumours
50. CALL interrupted in a patient with non-specific mental retardation: gene dosage-dependent alteration of murine brain development and behavior
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